sample reproducibility of genetic association using different multimarker tdts in genome-wide association studies characterization and a new approach样品重现性的遗传协会使用不同multimarker tdt)在全基因组关联研究表征和一种新方法.pdfVIP
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sample reproducibility of genetic association using different multimarker tdts in genome-wide association studies characterization and a new approach样品重现性的遗传协会使用不同multimarker tdt)在全基因组关联研究表征和一种新方法
Sample Reproducibility of Genetic Association Using
Different Multimarker TDTs in Genome-Wide Association
Studies: Characterization and a New Approach
1 1 1 2
Mara M. Abad-Grau *, Nuria Medina-Medina , Rosana Montes-Soldado , Fuencisla Matesanz , Vineet
Bafna3
´ ´
1 Departamento de Lenguajes y Sistemas Informaticos, ETS Ingeniera Informatica y de Telecomunicaciones - CITIC, Universidad de Granada, Granada, Spain, 2 Instituto de
´ ´
Parasitologa y Biomedicina Lopez Neyra, Consejo Superior de Investigaciones Cientıficas, Granada, Spain, 3 Department of Computer Science and Engineering, University
of California, San Diego, La Jolla, California, United States of America
Abstract
Multimarker Transmission/Disequilibrium Tests (TDTs) are very robust association tests to population admixture and
structure which may be used to identify susceptibility loci in genome-wide association studies. Multimarker TDTs using
several markers may increase power by capturing high-degree associations. However, there is also a risk of spurious
associations and power reduction due to the increase in degrees of freedom. In this study we show that associations found
by tests built on simple null hypotheses are highly reproducible in a second independent data set regardless the number of
markers. As a test exhibiting this feature to its maximum, we introduce the multimarker 2-Groups TDT (mTDT2G), a test
which under the hypothesis of no linkage, asymptotically follows a x2 distributi
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